Background. Francisella tularensis is a rare zoonotic bacterium that spreads sporadically by various routes, including infected arthropod bites, ingestion of contaminated water and inhalation of contaminated dust. However, its occurrence in postoperative chest infection has never been reported. Pathogen isolation, serology and molecular detection methods are commonly used for the diagnosis of tularaemia. Case presentation. We present the first case report of the isolation of F. tularensis from a patient with a chest infection (a boy in his teens) following cardiac surgery for closure of a ventral septal defect. It was isolated on blood and chocolate agar on the third day after the subculture of drain fluid collected in a blood culture bottle incubated in Bact T/Alert 3-D (bioMerieux, France). The organism was identified as F. tularensis by Vitek GN ID Cards (Vitek 2 Compact, bioMerieux, France). The patient made a smooth recovery with antibiotic therapy. Conclusion. F. tularensis can cause post-operative infection, especially in patients with a rural background.

Vitiligo is an autoimmune complex pigmentation disease characterized by non-pigmented patches on the surface of the skin that affect approximately 0.5–2% population worldwide. The exact etiology is still unknown; however, vitiligo is hypothesized to be a multifactorial and genetically heterogeneous condition. Therefore, the current study is designed to investigate the anthropometric presentation and genetic spectrum of vitiligo in fifteen consanguineous Pakistani families. The clinical evaluation of participating individuals revealed varying degrees of disease severity, with 23 years as the average age of disease onset. The majority of the affected individuals had non-segmental vitiligo (NSV). Whole exome sequencing analysis revealed clustering of rare variants of known vitiligo-associated genes. For instance, in the affected individuals of family VF-12, we identified three novel rare variants of PTPN22 (c.1108C>A), NRROS (c.197C>T) and HERC2 (c.10969G>A) genes. All three variants replaced evolutionarily conserved amino acid residues in encoded proteins, which are predicted to impact the ionic interactions in the secondary structure. Although various in silico algorithms predicted low effect sizes for these variants individually, the clustering of them in affected individuals increases the polygenic burden of risk alleles. To our knowledge, this is the first study that highlights the complex etiology of vitiligo and genetic heterogeneity in multiplex consanguineous Pakistani families.

Cardiomyopathies, a leading cause of heart failure and mortality worldwide, are a diverse group of heart muscle disorders, with dilated cardiomyopathy being the most prevalent subtype. Numerous genetic variants, identified through GWAS and candidate gene studies, are associated with cardiomyopathies. This study aimed to evaluate the association of the rs10757278 SNP polymorphism on chromosome 9p21.3 near the CDKN2A and CDKN2B genes with cardiomyopathy, focusing on its role in genetic susceptibility to ischemic dilated cardiomyopathy. Methods: A case-control study was conducted with 200 participants (100 cardiomyopathy patients and 100 controls). Clinical and echocardiographic parameters were recorded, and genotyping was performed using tetra-arms PCR. Results: Statistical analysis revealed that rs10757278 was significantly associated with cardiomyopathy (Chi-sq=11.679, p=0.00291) in allelic and genotypic distributions. The GG genotype (p=0.00958) increased risk, identifying the G allele as the risk allele. For IDCM, significant associations were observed for GG and AG genotypes (p=0.02613, p=0.00104), with the G allele increasing risk (p=0.0031, OR=3.19, CI=1.51–7.17) and the A allele offering protection (p=0.00961, OR=0.35, CI=0.15–0.177). Conclusion: These findings highlight rs10757278 as a potential biomarker for cardiomyopathy risk profiling. Further large-scale studies are warranted to confirm these results and improve early diagnosis and genetic risk prediction for cardiomyopathies.

Objectives: This study aimed to evaluate the association of the rs10757278 single nucleotide polymorphism (SNP) with cardiomyopathy, particularly its role in genetic susceptibility to ischemic dilated cardiomyopathy (IDCM). Methodology: A case-control study was conducted including 200 participants—100 cardiomyopathy patients and 100 healthy controls. Clinical and echocardiographic parameters were systematically recorded. Genotyping for rs10757278 was performed using tetra-primer ARMS-PCR. Allele and genotype frequencies were analyzed with odds ratios, and Hardy-Weinberg equilibrium was assessed to determine genetic association. Results: Logistic regression analysis revealed a significant association of rs10757278 with cardiomyopathy (Chi-square = 11.679, p = 0.00291) in both allelic and genotypic distributions. The GG genotype (p = 0.00958) conferred an increased risk, with the G allele identified as the risk allele. Among cardiomyopathy subtypes, IDCM showed a significant association with rs10757278, particularly with the GG and AG genotypes (p = 0.02613 and p = 0.00104, respectively). Logistic regression indicated that the G allele substantially increased IDCM risk (p = 0.0031, OR = 3.19, 95% CI = 1.51–7.17), while the A allele appeared protective (p = 0.00961, OR = 0.35, 95% CI = 0.15–0.77). This SNP, a known genome-wide association study (GWAS) hit, is strongly linked to coronary artery disease (CAD) and ischemic dilated cardiomyopathy, highlighting its potential as a biomarker for cardiomyopathy risk stratification. Conclusion: The rs10757278 variant is significantly associated with cardiomyopathies, particularly ischemic dilated cardiomyopathy, in the Pakistani population. The G allele serves as a genetic predictor of disease susceptibility. Larger, multi-center studies are warranted to validate these findings and facilitate early diagnosis and genetic risk profiling for cardiomyopathies.

Background & Objectives: Apolipoproteins, specifically ApoA-I (a cardioprotective HDL component) and ApoB (associated with cardiovascular risk), are increasingly recognized for their value in diagnosing and predicting heart disease. This study focused on comparing these markers and the ApoB/ApoA-I ratio with traditional lipid profiles to assess their diagnostic and prognostic capabilities. Methods: In this cross-sectional study, 1,200 participants were categorized into three groups: control (n=250), training (n=450), and validation (n=500). Blood samples were analyzed for ApoB, ApoA-I, and conventional lipid profile. Advanced statistical methods, including logistic regression, ROC curve analyses, and propensity score matching, were applied to control for confounding factors and validate findings. Results: The training cohort showed significantly higher ApoB levels (1.20 ± 0.52 g/L) compared to controls (1.0 ± 0.40 g/L, p < 0.001), while ApoA-I levels were significantly lower (1.03 ± 0.34 g/L vs. 1.12 ± 0.34 g/L, p = 0.045). The ApoB/ApoA-I ratio was markedly elevated in the training group (1.46 ± 0.18) versus controls (1.06 ± 0.95, p < 0.001). ApoB proved to be the most reliable predictor of coronary artery disease with an AUC of 0.82, surpassing the ApoB/ApoA-I ratio (AUC 0.70) and ApoA-I (AUC 0.65). Cholesterol and triglycerides demonstrated weaker associations with CAD. Conclusion: ApoB and the ApoB/ ApoA-I ratio are superior markers for assessing CAD risk compared to traditional lipid profile. This investigation lends further support for incorporating apolipoprotein testing into clinical practice, enhancing CAD risk stratification, in particular for the high-risk population.